Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy

BACKGROUND AND PURPOSE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Most SMA patients have a homozygous deletion in survival of motor neuron 1 (SMN1) gene, and neuronal apoptosis inhibitory protein (NAIP) gen...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Clin Neurol
Prif Awduron: Ahn, Eun-Ji, Yum, Mi-Sun, Kim, Eun-Hee, Yoo, Han-Wook, Lee, Beom Hee, Kim, Gu-Hwan, Ko, Tae-Sung
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Korean Neurological Association 2017
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5242148/
https://ncbi.nlm.nih.gov/pubmed/27730768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2017.13.1.27
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg